Advances in the relationship between key genes in inositol metabolism and neural tube defects / 国际儿科学杂志

Neural tube defect (NTD) is a complex and serious birth defect in the central nervous system.The etiology of NTD is multifactorial,involving the combined action of both genetic and environmental factors.Maternal nutrition is a significant environmental factor in NTD etiology,including vitamin B,folic acid,choline,and so on.Inositol,a substance of vitamin B,is closely related to embryonic development and NTD.Studies have found out that inositol supplement can prevent folic acid-resistant NTD and the key genes in its metabolic pathways play an important role in NTD occurrence.Therefore,this article reviews the inositol metabolic pathways and the relationship between its key genes and NTD,providing references for the depth study of NTD pathogenesis and prevention.

Study on the copy number variations of neural tube defect animal model with folate dysmetabolism / 中华实用儿科临床杂志

Objective To detect the genomic copy number variations(CNVs) of mice embryonic neural tissue with neural tube defects (NTDs) induced by methotrexate (MTX),and investigate the molecular genetic mechanisms between folic acid metabolism disorders and NTDs pathogenesis.Methods C57BL/6J NTD mice model was induced by MTX on gestational day 7.5,and the maternal serum and NTD embryonic neural tissues were collected;the array-comparative genomic hybridization(array-CGH) assay was utilized to analyze the whole genomic CNVs in NTD embryonic neural tissues;reverse transcription polymerase chain reaction(RT-PCR) was used to confirm the positive results;the maternal serum concentrations of folic acid and related metabolites and dihydrofolate reductase (DHFR) activity were detected by liquid chromatography-tandem mass spectrometry and enzymatic methods,respectively.Results ArrayCGH and RT-PCR results showed the 3 high confidence CNVs on XqE3,XqA1.1-qA2 and XqA1.1 in the NTD embryonic neural tissues.The NTD maternal serum concentrations of 5-methyltetrahydrofolate,5-formyltetrahydrofolic acid,S-adenosyl methionine and DHFR activity were reduced significantly compared with the control group,and there were statistical differences(all P ＜0.05).Conclusions There are obvious CNVs in embryonic neural tissue of NTD mice induced by MTX and folic acid dysmetabolism might cause mice embryonic neural tube developmental disorders through CNVs.